SNP Links for Protein (Select 157388979) - SNP

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Links from Protein

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Select item 14891501691.

rs1489150169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:37590923 (GRCh38)
4:37592545 (GRCh37)
Canonical SPDI:: NC_000004.12:37590922:G:A
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37590923G>A, NC_000004.11:g.37592545G>A, XM_011513713.3:c.868G>A, XM_011513713.2:c.868G>A, XM_011513713.1:c.868G>A, XM_011513712.3:c.868G>A, XM_011513712.2:c.868G>A, XM_011513712.1:c.868G>A, NM_018302.3:c.868G>A, NM_018302.2:c.868G>A, NM_001104629.2:c.868G>A, NM_001104629.1:c.868G>A, NM_001085399.2:c.*298C>T, NM_001085399.1:c.*298C>T, XM_047415896.1:c.868G>A, XP_011512015.1:p.Glu290Lys, XP_011512014.1:p.Glu290Lys, NP_060772.2:p.Glu290Lys, NP_001098099.1:p.Glu290Lys, XP_047271852.1:p.Glu290Lys

Select item 14668003042.

rs1466800304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:37590260 (GRCh38)
4:37591882 (GRCh37)
Canonical SPDI:: NC_000004.12:37590259:A:C
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.37590260A>C, NC_000004.11:g.37591882A>C, XM_011513713.3:c.205A>C, XM_011513713.2:c.205A>C, XM_011513713.1:c.205A>C, XM_011513712.3:c.205A>C, XM_011513712.2:c.205A>C, XM_011513712.1:c.205A>C, NM_018302.3:c.205A>C, NM_018302.2:c.205A>C, NM_001104629.2:c.205A>C, NM_001104629.1:c.205A>C, XM_047415896.1:c.205A>C

Select item 14601598853.

rs1460159885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:37590613 (GRCh38)
4:37592235 (GRCh37)
Canonical SPDI:: NC_000004.12:37590612:A:C
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.37590613A>C, NC_000004.11:g.37592235A>C, XM_011513713.3:c.558A>C, XM_011513713.2:c.558A>C, XM_011513713.1:c.558A>C, XM_011513712.3:c.558A>C, XM_011513712.2:c.558A>C, XM_011513712.1:c.558A>C, NM_018302.3:c.558A>C, NM_018302.2:c.558A>C, NM_001104629.2:c.558A>C, NM_001104629.1:c.558A>C, XM_047415896.1:c.558A>C

Select item 14581998234.

rs1458199823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:37590524 (GRCh38)
4:37592146 (GRCh37)
Canonical SPDI:: NC_000004.12:37590523:G:A
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.37590524G>A, NC_000004.11:g.37592146G>A, XM_011513713.3:c.469G>A, XM_011513713.2:c.469G>A, XM_011513713.1:c.469G>A, XM_011513712.3:c.469G>A, XM_011513712.2:c.469G>A, XM_011513712.1:c.469G>A, NM_018302.3:c.469G>A, NM_018302.2:c.469G>A, NM_001104629.2:c.469G>A, NM_001104629.1:c.469G>A, XM_047415896.1:c.469G>A, XP_011512015.1:p.Val157Ile, XP_011512014.1:p.Val157Ile, NP_060772.2:p.Val157Ile, NP_001098099.1:p.Val157Ile, XP_047271852.1:p.Val157Ile

Select item 14553816365.

rs1455381636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:37590259 (GRCh38)
4:37591881 (GRCh37)
Canonical SPDI:: NC_000004.12:37590258:C:T
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37590259C>T, NC_000004.11:g.37591881C>T, XM_011513713.3:c.204C>T, XM_011513713.2:c.204C>T, XM_011513713.1:c.204C>T, XM_011513712.3:c.204C>T, XM_011513712.2:c.204C>T, XM_011513712.1:c.204C>T, NM_018302.3:c.204C>T, NM_018302.2:c.204C>T, NM_001104629.2:c.204C>T, NM_001104629.1:c.204C>T, XM_047415896.1:c.204C>T

Select item 14527628406.

rs1452762840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:37590127 (GRCh38)
4:37591749 (GRCh37)
Canonical SPDI:: NC_000004.12:37590126:T:C
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.37590127T>C, NC_000004.11:g.37591749T>C, XM_011513713.3:c.72T>C, XM_011513713.2:c.72T>C, XM_011513713.1:c.72T>C, XM_011513712.3:c.72T>C, XM_011513712.2:c.72T>C, XM_011513712.1:c.72T>C, NM_018302.3:c.72T>C, NM_018302.2:c.72T>C, NM_001104629.2:c.72T>C, NM_001104629.1:c.72T>C, XM_047415896.1:c.72T>C

Select item 14485493577.

rs1448549357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:37590458 (GRCh38)
4:37592080 (GRCh37)
Canonical SPDI:: NC_000004.12:37590457:C:A
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.37590458C>A, NC_000004.11:g.37592080C>A, XM_011513713.3:c.403C>A, XM_011513713.2:c.403C>A, XM_011513713.1:c.403C>A, XM_011513712.3:c.403C>A, XM_011513712.2:c.403C>A, XM_011513712.1:c.403C>A, NM_018302.3:c.403C>A, NM_018302.2:c.403C>A, NM_001104629.2:c.403C>A, NM_001104629.1:c.403C>A, XM_047415896.1:c.403C>A, XP_011512015.1:p.Pro135Thr, XP_011512014.1:p.Pro135Thr, NP_060772.2:p.Pro135Thr, NP_001098099.1:p.Pro135Thr, XP_047271852.1:p.Pro135Thr

Select item 14443535668.

rs1444353566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:37590835 (GRCh38)
4:37592457 (GRCh37)
Canonical SPDI:: NC_000004.12:37590834:T:C
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.37590835T>C, NC_000004.11:g.37592457T>C, XM_011513713.3:c.780T>C, XM_011513713.2:c.780T>C, XM_011513713.1:c.780T>C, XM_011513712.3:c.780T>C, XM_011513712.2:c.780T>C, XM_011513712.1:c.780T>C, NM_018302.3:c.780T>C, NM_018302.2:c.780T>C, NM_001104629.2:c.780T>C, NM_001104629.1:c.780T>C, NM_001085399.2:c.*386A>G, NM_001085399.1:c.*386A>G, XM_047415896.1:c.780T>C

Select item 14364174999.

rs1436417499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:37590559 (GRCh38)
4:37592181 (GRCh37)
Canonical SPDI:: NC_000004.12:37590558:G:C
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37590559G>C, NC_000004.11:g.37592181G>C, XM_011513713.3:c.504G>C, XM_011513713.2:c.504G>C, XM_011513713.1:c.504G>C, XM_011513712.3:c.504G>C, XM_011513712.2:c.504G>C, XM_011513712.1:c.504G>C, NM_018302.3:c.504G>C, NM_018302.2:c.504G>C, NM_001104629.2:c.504G>C, NM_001104629.1:c.504G>C, XM_047415896.1:c.504G>C, XP_011512015.1:p.Glu168Asp, XP_011512014.1:p.Glu168Asp, NP_060772.2:p.Glu168Asp, NP_001098099.1:p.Glu168Asp, XP_047271852.1:p.Glu168Asp

Select item 143381935710.

rs1433819357 [Homo sapiens]

Variant type:: DEL
Alleles:: GGC>- [Show Flanks]
Chromosome:: 4:37590122 (GRCh38)
4:37591744 (GRCh37)
Canonical SPDI:: NC_000004.12:37590121:GGC:
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: intron_variant,inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.37590122_37590124del, NC_000004.11:g.37591744_37591746del, XM_011513713.3:c.67_69del, XM_011513713.2:c.67_69del, XM_011513713.1:c.67_69del, XM_011513712.3:c.67_69del, XM_011513712.2:c.67_69del, XM_011513712.1:c.67_69del, NM_018302.3:c.67_69del, NM_018302.2:c.67_69del, NM_001104629.2:c.67_69del, NM_001104629.1:c.67_69del, XM_047415896.1:c.67_69del, XP_011512015.1:p.Gly23del, XP_011512014.1:p.Gly23del, NP_060772.2:p.Gly23del, NP_001098099.1:p.Gly23del, XP_047271852.1:p.Gly23del

Select item 143195489811.

rs1431954898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:37590139 (GRCh38)
4:37591761 (GRCh37)
Canonical SPDI:: NC_000004.12:37590138:C:A
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37590139C>A, NC_000004.11:g.37591761C>A, XM_011513713.3:c.84C>A, XM_011513713.2:c.84C>A, XM_011513713.1:c.84C>A, XM_011513712.3:c.84C>A, XM_011513712.2:c.84C>A, XM_011513712.1:c.84C>A, NM_018302.3:c.84C>A, NM_018302.2:c.84C>A, NM_001104629.2:c.84C>A, NM_001104629.1:c.84C>A, XM_047415896.1:c.84C>A

Select item 142461704012.

rs1424617040 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:37590125 (GRCh38)
4:37591747 (GRCh37)
Canonical SPDI:: NC_000004.12:37590124:T:C
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.37590125T>C, NC_000004.11:g.37591747T>C, XM_011513713.3:c.70T>C, XM_011513713.2:c.70T>C, XM_011513713.1:c.70T>C, XM_011513712.3:c.70T>C, XM_011513712.2:c.70T>C, XM_011513712.1:c.70T>C, NM_018302.3:c.70T>C, NM_018302.2:c.70T>C, NM_001104629.2:c.70T>C, NM_001104629.1:c.70T>C, XM_047415896.1:c.70T>C, XP_011512015.1:p.Tyr24His, XP_011512014.1:p.Tyr24His, NP_060772.2:p.Tyr24His, NP_001098099.1:p.Tyr24His, XP_047271852.1:p.Tyr24His

Select item 142398832813.

rs1423988328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:37590399 (GRCh38)
4:37592021 (GRCh37)
Canonical SPDI:: NC_000004.12:37590398:C:G
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.37590399C>G, NC_000004.11:g.37592021C>G, XM_011513713.3:c.344C>G, XM_011513713.2:c.344C>G, XM_011513713.1:c.344C>G, XM_011513712.3:c.344C>G, XM_011513712.2:c.344C>G, XM_011513712.1:c.344C>G, NM_018302.3:c.344C>G, NM_018302.2:c.344C>G, NM_001104629.2:c.344C>G, NM_001104629.1:c.344C>G, XM_047415896.1:c.344C>G, XP_011512015.1:p.Pro115Arg, XP_011512014.1:p.Pro115Arg, NP_060772.2:p.Pro115Arg, NP_001098099.1:p.Pro115Arg, XP_047271852.1:p.Pro115Arg

Select item 142085255514.

rs1420852555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:37590721 (GRCh38)
4:37592343 (GRCh37)
Canonical SPDI:: NC_000004.12:37590720:C:T
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37590721C>T, NC_000004.11:g.37592343C>T, XM_011513713.3:c.666C>T, XM_011513713.2:c.666C>T, XM_011513713.1:c.666C>T, XM_011513712.3:c.666C>T, XM_011513712.2:c.666C>T, XM_011513712.1:c.666C>T, NM_018302.3:c.666C>T, NM_018302.2:c.666C>T, NM_001104629.2:c.666C>T, NM_001104629.1:c.666C>T, XM_047415896.1:c.666C>T

Select item 140421414515.

rs1404214145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:37590625 (GRCh38)
4:37592247 (GRCh37)
Canonical SPDI:: NC_000004.12:37590624:G:C
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37590625G>C, NC_000004.11:g.37592247G>C, XM_011513713.3:c.570G>C, XM_011513713.2:c.570G>C, XM_011513713.1:c.570G>C, XM_011513712.3:c.570G>C, XM_011513712.2:c.570G>C, XM_011513712.1:c.570G>C, NM_018302.3:c.570G>C, NM_018302.2:c.570G>C, NM_001104629.2:c.570G>C, NM_001104629.1:c.570G>C, XM_047415896.1:c.570G>C, XP_011512015.1:p.Gln190His, XP_011512014.1:p.Gln190His, NP_060772.2:p.Gln190His, NP_001098099.1:p.Gln190His, XP_047271852.1:p.Gln190His

Select item 140363867716.

rs1403638677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:37590765 (GRCh38)
4:37592387 (GRCh37)
Canonical SPDI:: NC_000004.12:37590764:G:A,NC_000004.12:37590764:G:T
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000004.12:g.37590765G>A, NC_000004.12:g.37590765G>T, NC_000004.11:g.37592387G>A, NC_000004.11:g.37592387G>T, XM_011513713.3:c.710G>A, XM_011513713.3:c.710G>T, XM_011513713.2:c.710G>A, XM_011513713.2:c.710G>T, XM_011513713.1:c.710G>A, XM_011513713.1:c.710G>T, XM_011513712.3:c.710G>A, XM_011513712.3:c.710G>T, XM_011513712.2:c.710G>A, XM_011513712.2:c.710G>T, XM_011513712.1:c.710G>A, XM_011513712.1:c.710G>T, NM_018302.3:c.710G>A, NM_018302.3:c.710G>T, NM_018302.2:c.710G>A, NM_018302.2:c.710G>T, NM_001104629.2:c.710G>A, NM_001104629.2:c.710G>T, NM_001104629.1:c.710G>A, NM_001104629.1:c.710G>T, XM_047415896.1:c.710G>A, XM_047415896.1:c.710G>T, XP_011512015.1:p.Arg237Lys, XP_011512015.1:p.Arg237Ile, XP_011512014.1:p.Arg237Lys, XP_011512014.1:p.Arg237Ile, NP_060772.2:p.Arg237Lys, NP_060772.2:p.Arg237Ile, NP_001098099.1:p.Arg237Lys, NP_001098099.1:p.Arg237Ile, XP_047271852.1:p.Arg237Lys, XP_047271852.1:p.Arg237Ile

Select item 140295143017.

rs1402951430 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:37590978 (GRCh38)
4:37592600 (GRCh37)
Canonical SPDI:: NC_000004.12:37590977:A:G
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37590978A>G, NC_000004.11:g.37592600A>G, XM_011513713.3:c.923A>G, XM_011513713.2:c.923A>G, XM_011513713.1:c.923A>G, XM_011513712.3:c.923A>G, XM_011513712.2:c.923A>G, XM_011513712.1:c.923A>G, NM_018302.3:c.923A>G, NM_018302.2:c.923A>G, NM_001104629.2:c.923A>G, NM_001104629.1:c.923A>G, NM_001085399.2:c.*243T>C, NM_001085399.1:c.*243T>C, XM_047415896.1:c.923A>G, XP_011512015.1:p.Glu308Gly, XP_011512014.1:p.Glu308Gly, NP_060772.2:p.Glu308Gly, NP_001098099.1:p.Glu308Gly, XP_047271852.1:p.Glu308Gly

Select item 140214639518.

rs1402146395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:37590477 (GRCh38)
4:37592099 (GRCh37)
Canonical SPDI:: NC_000004.12:37590476:G:A
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.37590477G>A, NC_000004.11:g.37592099G>A, XM_011513713.3:c.422G>A, XM_011513713.2:c.422G>A, XM_011513713.1:c.422G>A, XM_011513712.3:c.422G>A, XM_011513712.2:c.422G>A, XM_011513712.1:c.422G>A, NM_018302.3:c.422G>A, NM_018302.2:c.422G>A, NM_001104629.2:c.422G>A, NM_001104629.1:c.422G>A, XM_047415896.1:c.422G>A, XP_011512015.1:p.Gly141Asp, XP_011512014.1:p.Gly141Asp, NP_060772.2:p.Gly141Asp, NP_001098099.1:p.Gly141Asp, XP_047271852.1:p.Gly141Asp

Select item 140198097619.

rs1401980976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:37588884 (GRCh38)
4:37590506 (GRCh37)
Canonical SPDI:: NC_000004.12:37588883:G:A
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37588884G>A, NC_000004.11:g.37590506G>A, XM_011513713.3:c.17G>A, XM_011513713.2:c.17G>A, XM_011513713.1:c.17G>A, XM_011513712.3:c.17G>A, XM_011513712.2:c.17G>A, XM_011513712.1:c.17G>A, NM_018302.3:c.17G>A, NM_018302.2:c.17G>A, NM_001104629.2:c.17G>A, NM_001104629.1:c.17G>A, XM_047415896.1:c.17G>A, XP_011512015.1:p.Cys6Tyr, XP_011512014.1:p.Cys6Tyr, NP_060772.2:p.Cys6Tyr, NP_001098099.1:p.Cys6Tyr, XP_047271852.1:p.Cys6Tyr

Select item 140129039920.

rs1401290399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:37590884 (GRCh38)
4:37592506 (GRCh37)
Canonical SPDI:: NC_000004.12:37590883:C:T
Gene:: C4orf19 (Varview), RELL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37590884C>T, NC_000004.11:g.37592506C>T, XM_011513713.3:c.829C>T, XM_011513713.2:c.829C>T, XM_011513713.1:c.829C>T, XM_011513712.3:c.829C>T, XM_011513712.2:c.829C>T, XM_011513712.1:c.829C>T, NM_018302.3:c.829C>T, NM_018302.2:c.829C>T, NM_001104629.2:c.829C>T, NM_001104629.1:c.829C>T, NM_001085399.2:c.*337G>A, NM_001085399.1:c.*337G>A, XM_047415896.1:c.829C>T, XP_011512015.1:p.His277Tyr, XP_011512014.1:p.His277Tyr, NP_060772.2:p.His277Tyr, NP_001098099.1:p.His277Tyr, XP_047271852.1:p.His277Tyr

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